Canonical Allele Identifier: CA1128556985

Gene:

Linked Data

• dbSNP Id: rs1830022870
• gnomAD v3: 9-117796713-G-C
• gnomAD v4: 9-117796713-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117796713G>C , CM000671.2:g.117796713G>C	GRCh38
NC_000009.11:g.120558991G>C , CM000671.1:g.120558991G>C	GRCh37
NC_000009.10:g.119598812G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000646089.2:c.94-51352G>C	ENSP00000496197.1:n.94-51352G>C
ENST00000697624.1:n.201-51352G>C
ENST00000697636.1:c.94-51352G>C	ENSP00000513366.1:n.94-51352G>C
ENST00000697637.1:c.94-51352G>C	ENSP00000513367.1:n.94-51352G>C
ENST00000697664.1:c.*86+29463G>C	ENSP00000513389.1:n.*86+29463G>C
ENST00000697665.1:c.94-51352G>C	ENSP00000513390.1:n.94-51352G>C
ENST00000697666.1:c.141-51352G>C	ENSP00000513391.1:n.141-51352G>C
ENST00000642985.1:c.261-51352G>C	ENSP00000493686.1:n.261-51352G>C
ENST00000646089.1:c.94-51352G>C	ENSP00000496197.1:n.94-51352G>C
ENST00000665764.1:c.94-51352G>C	ENSP00000499745.1:n.94-51352G>C
XR_930289.1:n.1628-6268G>C
XR_001746915.1:n.2244-6268G>C